Targeting of Slc25a21 Is Associated with Orofacial Defects and Otitis Media Due to Disrupted Expression of a Neighbouring Gene
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{"title"=>"Targeting of Slc25a21 Is Associated with Orofacial Defects and Otitis Media Due to Disrupted Expression of a Neighbouring Gene", "type"=>"journal", "authors"=>[{"first_name"=>"Simon", "last_name"=>"Maguire", "scopus_author_id"=>"35933391000"}, {"first_name"=>"Jeanne", "last_name"=>"Estabel", "scopus_author_id"=>"6507548792"}, {"first_name"=>"Neil", "last_name"=>"Ingham", "scopus_author_id"=>"6603459395"}, {"first_name"=>"Selina", "last_name"=>"Pearson", "scopus_author_id"=>"56954372300"}, {"first_name"=>"Edward", "last_name"=>"Ryder", "scopus_author_id"=>"7006305309"}, {"first_name"=>"Damian M.", "last_name"=>"Carragher", "scopus_author_id"=>"23481143500"}, {"first_name"=>"Nicolas", "last_name"=>"Walker", "scopus_author_id"=>"56114996800"}, {"first_name"=>"James", "last_name"=>"Bussell", "scopus_author_id"=>"55201476800"}, {"first_name"=>"Waiin", "last_name"=>"Chan", "scopus_author_id"=>"8090963000"}, {"first_name"=>"Thomas M.", "last_name"=>"Keane", "scopus_author_id"=>"8936965600"}, {"first_name"=>"David J.", "last_name"=>"Adams", "scopus_author_id"=>"7404054411"}, {"first_name"=>"Cheryl L.", "last_name"=>"Scudamore", "scopus_author_id"=>"7006274899"}, {"first_name"=>"Christopher J.", "last_name"=>"Lelliott", "scopus_author_id"=>"6507696487"}, {"first_name"=>"Ramiro", "last_name"=>"Ramirez-Solis", "scopus_author_id"=>"6602187588"}, {"first_name"=>"Natasha A.", "last_name"=>"Karp", "scopus_author_id"=>"7003365666"}, {"first_name"=>"Karen P.", "last_name"=>"Steel", "scopus_author_id"=>"7102712349"}, {"first_name"=>"Jacqueline K.", "last_name"=>"White", "scopus_author_id"=>"57125207100"}, {"first_name"=>"Anna Karin", "last_name"=>"Gerdin", "scopus_author_id"=>"6507855461"}], "year"=>2014, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "scopus"=>"2-s2.0-84898651785", "sgr"=>"84898651785", "pui"=>"372837939", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "pmid"=>"24642684", "doi"=>"10.1371/journal.pone.0091807"}, "id"=>"30c2ca6e-45d0-3f68-b34f-10efe94936c7", "abstract"=>"Homozygosity for Slc25a21tm1a(KOMP)Wtsi results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment and inflammation in the middle ear. In humans it has been hypothesised that the 2-oxoadipate mitochondrial carrier coded by SLC25A21 may be involved in the disease 2-oxoadipate acidaemia. Unexpectedly, no 2-oxoadipate acidaemia-like symptoms were observed in animals homozygous for Slc25a21tm1a(KOMP)Wtsi despite confirmation that this allele reduces Slc25a21 expression by 71.3%. To study the complete knockout, an allelic series was generated using the loxP and FRT sites typical of a Knockout Mouse Project allele. After removal of the critical exon and neomycin selection cassette, Slc25a21 knockout mice homozygous for the Slc25a21tm1b(KOMP)Wtsi and Slc25a21tm1d(KOMP)Wtsi alleles were phenotypically indistinguishable from wild-type. This led us to explore the genomic environment of Slc25a21 and to discover that expression of Pax9, located 3' of the target gene, was reduced in homozygous Slc25a21tm1a(KOMP)Wtsi mice. We hypothesize that the presence of the selection cassette is the cause of the down regulation of Pax9 observed. The phenotypes we observed in homozygous Slc25a21tm1a(KOMP)Wtsi mice were broadly consistent with a hypomorphic Pax9 allele with the exception of otitis media and hearing impairment which may be a novel consequence of Pax9 down regulation. We explore the ramifications associated with this particular targeted mutation and emphasise the need to interpret phenotypes taking into consideration all potential underlying genetic mechanisms.", "link"=>"http://www.mendeley.com/research/targeting-slc25a21-associated-orofacial-defects-otitis-media-due-disrupted-expression-neighbouring-g", "reader_count"=>14, "reader_count_by_academic_status"=>{"Researcher"=>7, "Student > Ph. D. Student"=>2, "Student > Master"=>2, "Other"=>2, "Student > Bachelor"=>1}, "reader_count_by_user_role"=>{"Researcher"=>7, "Student > Ph. D. Student"=>2, "Student > Master"=>2, "Other"=>2, "Student > Bachelor"=>1}, "reader_count_by_subject_area"=>{"Agricultural and Biological Sciences"=>8, "Medicine and Dentistry"=>4, "Veterinary Science and Veterinary Medicine"=>1, "Immunology and Microbiology"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Immunology and Microbiology"=>{"Immunology and Microbiology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>8}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>1}}, "reader_count_by_country"=>{"United Kingdom"=>2}, "group_count"=>0}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1424055"], "description"=>"<p>Auditory brainstem response threshold was elevated across all frequencies in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice aged 1, 2, 3 and 6 months respectively. Mean ABR thresholds (± SD) are shown for wild-type (green symbols), heterozygote (blue symbols) and homozygote (red symbols) <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice (A–D). The click-evoked ABR thresholds (mean ± SD) plotted as a function of age (months) demonstrated a progressive deterioration in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice (E); an observation clearly demonstrated by plotting the mean click-evoked ABR threshold elevation of mutants above wild-types as a function of age (months) (F).</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "brainstem", "elevated"], "article_id"=>964994, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g004", "stats"=>{"downloads"=>1, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Auditory_brainstem_response_threshold_was_elevated_in_Slc25a21_tm1a_KOMP_Wtsi_mice_/964994", "title"=>"Auditory brainstem response threshold was elevated in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424062"], "description"=>"<p>The tympanic membrane viewed from the external ear canal showed an opaque fluid present in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> homozygous mice (B) that was not present in wild-type controls (A). The opaque exudate was clearly visible on haematoxylin and eosin stained histology sections through the middle ear of <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> homozygous mice (D) compared to wild-types (C). Examination at higher magnification revealed that the exudate containing inflammatory cells including foamy macrophages (solid arrow head), and neutrophils (short arrow) in the middle ear cavity (MEC), and a thickened mucosa (M, double headed arrow) in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> homozygous mice due to epithelial hyperplasia, oedema and congestion (F). Wild-type mice appeared normal (E).</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "otitis"], "article_id"=>965001, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g005", "stats"=>{"downloads"=>0, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Signs_of_otitis_media_in_Slc25a21_tm1a_KOMP_Wtsi_mice_/965001", "title"=>"Signs of otitis media in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424063"], "description"=>"<p>Quantitative PCR on RNA from E13.5 embryo heads demonstrated that <i>Slc25a21</i> RNA expression was significantly reduced in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i>, <i>Slc25a21<sup>tm1b(KOMP)Wtsi</sup></i> and <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i> homozygotes (* p<0.05; *** p<0.001), but equivalent to wild-type levels in <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i> homozygotes (A). A schematic of the <i>Slc25a21<sup>tm1(KOMP)Wtsi</sup></i> allelic series is presented, consisting of: (B) <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i>, the knockout first reporter (<i>lacZ</i>) tagged insertion allele; (C) <i>Slc25a21<sup>tm1b(KOMP)Wts</sup></i><sup>i</sup>, the <i>lacZ</i> tagged deletion allele generated by breeding with mice ubiquitously expressing Cre recombinase; (D) <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i>, the conditional allele generated by breeding mice carrying the <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> allele with mice ubiquitously expressing Flp recombinase; and (E) <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i>, the deletion allele arising after breeding mice carrying the <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i> allele with mice ubiquitously expressing Cre recombinase (E).</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "allelic", "rna"], "article_id"=>965002, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g006", "stats"=>{"downloads"=>3, "page_views"=>79, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Schematic_of_the_Slc25a21_tm1_KOMP_Wtsi_allelic_series_and_the_associated_RNA_expression_levels_/965002", "title"=>"Schematic of the <i>Slc25a21<sup>tm1(KOMP)Wtsi</sup></i> allelic series and the associated RNA expression levels.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424065"], "description"=>"<p>Body weight and fat mass were normal in females homozygous (red symbols) for <i>Slc25a21<sup>tm1b(KOMP)Wtsi</sup></i> (A,D) (n = 7), <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i> (B,E) (n = 7), and <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i> mice (C,F) (body weight n = 7, fat mass n = 5) compared to local wild-type controls run on the same week (green symbols) (n≥9). Male homozygotes for each of these three alleles and two parameters were also phenotypically normal (data not shown). Mean (± SD) body weight is plotted against age (A–C). Fat mass is presented as a boxplot, with median, 25<sup>th</sup> and 75<sup>th</sup> percentile (box), and the lowest and highest data point within 1.5× inter quartile range (whiskers) shown (D–F). The median and 95% reference range (2.5–97.5<sup>th</sup> percentiles, dotted lines) for all wild-type mice of the same genetic background and sex (n>80) are displayed on the pale green background. ABR thresholds were normal in homozygous <i>Slc25a21<sup>tm1b(KOMP)Wtsi</sup></i> (G), <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i> (H) and <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i> mice (I) (red symbols) compared to wild-type controls (green symbols).</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "phenotype", "observed", "homozygous"], "article_id"=>965004, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g007", "stats"=>{"downloads"=>2, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Normal_phenotype_observed_in_Slc25a21_tm1b_KOMP_Wtsi_Slc25a21_tm1c_KOMP_Wtsi_and_Slc25a21_tm1d_KOMP_Wtsi_homozygous_mice_/965004", "title"=>"Normal phenotype observed in <i>Slc25a21<sup>tm1b(KOMP)Wtsi</sup></i>, <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i> and <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i> homozygous mice.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424066"], "description"=>"<p>Quantitative PCR on RNA from E13.5 embryo heads demonstrated that <i>Pax9</i> RNA expression was significantly reduced in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> (*** p = 1.1E-06) homozygotes, but equivalent to wild-type levels in <i>Slc25a21<sup>tm1b(KOMP)Wtsi</sup></i>, <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i> and <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i> homozygotes.</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "reduced"], "article_id"=>965005, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g008", "stats"=>{"downloads"=>3, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_RNA_expression_of_Pax9_was_reduced_in_Slc25a21_tm1a_KOMP_Wtsi_mice_/965005", "title"=>"RNA expression of <i>Pax9</i> was reduced in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424067"], "description"=>"<p>From heterozygous inter-crossing, homozygous progeny for <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> were recorded at a sub-Mendelian ratio at post natal day 14 (P14), but a normal ratio at two embryonic time points (E14.5 and E18.5). <i>Slc25a21<sup>tm1b(KOMP)Wtsi</sup></i>, <i>Slc25a21<sup>tm1c(KOMP)Wtsi</sup></i> and <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i> homozygotes were detected at the expected ratio.</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models"], "article_id"=>965006, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.t001", "stats"=>{"downloads"=>0, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genotype_distribution_for_Slc25a21_tm1a_KOMP_Wtsi_mice_/965006", "title"=>"Genotype distribution for <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424069", "https://ndownloader.figshare.com/files/1424070", "https://ndownloader.figshare.com/files/1424071", "https://ndownloader.figshare.com/files/1424072"], "description"=>"<div><p>Homozygosity for <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment and inflammation in the middle ear. In humans it has been hypothesised that the 2-oxoadipate mitochondrial carrier coded by <i>SLC25A21</i> may be involved in the disease 2-oxoadipate acidaemia. Unexpectedly, no 2-oxoadipate acidaemia-like symptoms were observed in animals homozygous for <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> despite confirmation that this allele reduces <i>Slc25a21</i> expression by 71.3%. To study the complete knockout, an allelic series was generated using the <i>loxP</i> and <i>FRT</i> sites typical of a Knockout Mouse Project allele. After removal of the critical exon and neomycin selection cassette, <i>Slc25a21</i> knockout mice homozygous for the <i>Slc25a21<sup>tm1b(KOMP)Wtsi</sup></i> and <i>Slc25a21<sup>tm1d(KOMP)Wtsi</sup></i> alleles were phenotypically indistinguishable from wild-type. This led us to explore the genomic environment of <i>Slc25a21</i> and to discover that expression of <i>Pax9</i>, located 3′ of the target gene, was reduced in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice. We hypothesize that the presence of the selection cassette is the cause of the down regulation of <i>Pax9</i> observed. The phenotypes we observed in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice were broadly consistent with a hypomorphic <i>Pax9</i> allele with the exception of otitis media and hearing impairment which may be a novel consequence of <i>Pax9</i> down regulation. We explore the ramifications associated with this particular targeted mutation and emphasise the need to interpret phenotypes taking into consideration all potential underlying genetic mechanisms.</p></div>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "targeting", "orofacial", "defects", "otitis", "disrupted", "neighbouring"], "article_id"=>965008, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0091807.s001", "https://dx.doi.org/10.1371/journal.pone.0091807.s002", "https://dx.doi.org/10.1371/journal.pone.0091807.s003", "https://dx.doi.org/10.1371/journal.pone.0091807.s004"], "stats"=>{"downloads"=>21, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Targeting_of_Slc25a21_Is_Associated_with_Orofacial_Defects_and_Otitis_Media_Due_to_Disrupted_Expression_of_a_Neighbouring_Gene/965008", "title"=>"Targeting of <i>Slc25a21</i> Is Associated with Orofacial Defects and Otitis Media Due to Disrupted Expression of a Neighbouring Gene", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424044"], "description"=>"<p>Homozygous (red symbols) <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> female (A,C) (n = 7) and male (B,D) (n = 7) mice showed decreased body weight and fat mass compared to local wild-type controls run on the same week (green symbols) (female, n = 22; male, n = 15). Mean (± SD) body weight is plotted against age (A,B). Fat mass is presented as a boxplot, with median, 25<sup>th</sup> and 75<sup>th</sup> percentile (box), and the lowest and highest data point within 1.5× inter quartile range (whiskers) shown (C,D). The median and 95% reference range (2.5–97.5<sup>th</sup> percentiles, dotted lines) for all wild-type mice of the same genetic background and sex (n>750) are displayed on the pale green background.</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "reduced", "homozygous"], "article_id"=>964983, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g001", "stats"=>{"downloads"=>0, "page_views"=>9, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Body_weight_and_fat_mass_were_reduced_in_homozygous_Slc25a21_tm1a_KOMP_Wtsi_mice_/964983", "title"=>"Body weight and fat mass were reduced in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424045"], "description"=>"<p>Dysmorphology analysis revealed underdeveloped, white incisors (A–B) in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> homozygous mice as compared to wild-type (C). Wholemount (D–F) and subsequent histological sections (G) demonstrated bacterial <i>lacZ</i> activity in cavities within lower jaw molars of <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> homozygous (D,G) mice compared to heterozygous (E) and wild-type (F) mice. Focal fracturing of the surface dentine is indicated with a black arrow and necrosis of the pulp indicated with a red arrow (G). Micro-CT imaging demonstrated that the root aspect of lower jaw incisors was severely under developed (white arrow) and lacked enamel coating in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice (H–I) compared to wild-type (J).</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "abnormalities", "observed", "homozygous"], "article_id"=>964984, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g002", "stats"=>{"downloads"=>1, "page_views"=>16, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Dental_abnormalities_observed_in_homozygous_Slc25a21_tm1a_KOMP_Wtsi_mice_/964984", "title"=>"Dental abnormalities observed in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/1424051"], "description"=>"<p>Abnormalities in rugae (in particular number 3) were observed in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice (A–C) compared to wild-type (D), indicated with arrows (wt, n = 11; hom, n = 11). Micro-CT analysis revealed that the anterior part of the vomer bone was absent in <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> homozygous mice (E–F) compared to wild-type (G) (wt, n = 2; hom, n = 12). This was confirmed by dissection of the palate of <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice (H).</p>", "links"=>[], "tags"=>["anatomy", "histology", "developmental biology", "morphogenesis", "genetics", "Animal genetics", "gene expression", "Gene function", "Genetics of disease", "physiology", "electrophysiology", "immunology", "Immune response", "inflammation", "Clinical immunology", "immunity", "Model organisms", "Animal models", "vomer", "abnormalities", "observed", "homozygous"], "article_id"=>964989, "categories"=>["Biological Sciences"], "users"=>["Simon Maguire", "Jeanne Estabel", "Neil Ingham", "Selina Pearson", "Edward Ryder", "Damian M. Carragher", "Nicolas Walker", "James Bussell", "Wai-In Chan", "Thomas M. Keane", "David J. Adams", "Cheryl L. Scudamore", "Christopher J. Lelliott", "Ramiro Ramirez-Solis", "Natasha A. Karp", "Karen P. Steel", "Jacqueline K. White", "Anna-Karin Gerdin"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091807.g003", "stats"=>{"downloads"=>5, "page_views"=>135, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Rugae_and_vomer_abnormalities_observed_in_homozygous_Slc25a21_tm1a_KOMP_Wtsi_mice_/964989", "title"=>"Rugae and vomer abnormalities observed in homozygous <i>Slc25a21<sup>tm1a(KOMP)Wtsi</sup></i> mice.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-18 02:43:27"}

PMC Usage Stats | Further Information

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Relative Metric

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